Ellis-Van Creveld syndrome

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict

Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in 25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16 regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP, while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium (LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region. Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa, an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent signals within the same regio

Focal nodular hyperplasia within accessory liver: imaging findings at computed tomography and magnetic resonance imaging

Accessory liver tissue is a rare but probably underreported entity that may harbor the same spectrum of pathology as that of the parent organ. The rarity and aberrant locations of such lesions cause confusion and may lower diagnostic confidence despite otherwise classic radiographic appearances. Focal nodular hyperplasia (FNH) is the most common non-hemangiomatous benign hepatic tumor, but to our knowledge, ectopic FNH has been reported only once before in the gastroenterology literature. We present the first case of ectopic FNH in the radiology literature

Focal nodular hyperplasia within accessory liver: imaging findings at computed tomography and magnetic resonance imaging.

Accessory liver tissue is a rare but probably underreported entity that may harbor the same spectrum of pathology as that of the parent organ. The rarity and aberrant locations of such lesions cause confusion and may lower diagnostic confidence despite otherwise classic radiographic appearances. Focal nodular hyperplasia (FNH) is the most common non-hemangiomatous benign hepatic tumor, but to our knowledge, ectopic FNH has been reported only once before in the gastroenterology literature. We present the first case of ectopic FNH in the radiology literature

Evaluating blunt pancreatic trauma at whole body CT: current practices and future directions.

Blunt pancreatic trauma almost always occurs in the setting of multiple severe injuries, and is usually diagnosed within the context of whole-body trauma CT. Associated injuries may flag the pancreas for greater scrutiny. Main duct laceration is the primary determinant of the need for surgical intervention. Characterization is improved with advanced post-processing techniques. We present useful diagnostic pearls, describe key pitfalls, and review advancements in the evaluation of pancreatic trauma at whole-body MDCT